Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome
Abstract Most Beckwith–Wiedemann syndrome (BWS) cases are sporadic; nonetheless, imprinting center 1 (IC1) microdeletions have been suggested as a rare cause of familial BWS, with ~ 20 reported cases. We report 13 cases from nine families with IC1 microdeletions. Recurrent 1.4-kb, 1.8-kb, and 2.2-kb...
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BMC
2025-04-01
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| Series: | Clinical Epigenetics |
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| Online Access: | https://doi.org/10.1186/s13148-025-01873-5 |
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| author | Qiliang Ding Zinandre Stander Brandon J. Elizalde Erica S. Stelmach Jaime C. Duncan Noemi Vidal-Folch Linda Hasadsri Kandelaria M. Rumilla Wei Shen |
| author_facet | Qiliang Ding Zinandre Stander Brandon J. Elizalde Erica S. Stelmach Jaime C. Duncan Noemi Vidal-Folch Linda Hasadsri Kandelaria M. Rumilla Wei Shen |
| author_sort | Qiliang Ding |
| collection | DOAJ |
| description | Abstract Most Beckwith–Wiedemann syndrome (BWS) cases are sporadic; nonetheless, imprinting center 1 (IC1) microdeletions have been suggested as a rare cause of familial BWS, with ~ 20 reported cases. We report 13 cases from nine families with IC1 microdeletions. Recurrent 1.4-kb, 1.8-kb, and 2.2-kb deletions were observed. IC1 hypermethylation was identified in all families, and we established a statistically significant relationship between IC1 microdeletions and hypermethylation (OR: 108.17, p = 2.76e-13). This study confirms IC1 microdeletions as a cause of familial BWS, expands the understanding of their molecular mechanisms, and supports a Likely Pathogenic clinical classification for IC1 microdeletions. |
| format | Article |
| id | doaj-art-8ab478bb5dd9434192ae4ebdc05abff2 |
| institution | OA Journals |
| issn | 1868-7083 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Clinical Epigenetics |
| spelling | doaj-art-8ab478bb5dd9434192ae4ebdc05abff22025-08-20T01:47:32ZengBMCClinical Epigenetics1868-70832025-04-011711610.1186/s13148-025-01873-5Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndromeQiliang Ding0Zinandre Stander1Brandon J. Elizalde2Erica S. Stelmach3Jaime C. Duncan4Noemi Vidal-Folch5Linda Hasadsri6Kandelaria M. Rumilla7Wei Shen8Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo ClinicDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo ClinicDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo ClinicDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo ClinicDivision of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children’s Hospital of ChicagoDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo ClinicDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo ClinicDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo ClinicDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo ClinicAbstract Most Beckwith–Wiedemann syndrome (BWS) cases are sporadic; nonetheless, imprinting center 1 (IC1) microdeletions have been suggested as a rare cause of familial BWS, with ~ 20 reported cases. We report 13 cases from nine families with IC1 microdeletions. Recurrent 1.4-kb, 1.8-kb, and 2.2-kb deletions were observed. IC1 hypermethylation was identified in all families, and we established a statistically significant relationship between IC1 microdeletions and hypermethylation (OR: 108.17, p = 2.76e-13). This study confirms IC1 microdeletions as a cause of familial BWS, expands the understanding of their molecular mechanisms, and supports a Likely Pathogenic clinical classification for IC1 microdeletions.https://doi.org/10.1186/s13148-025-01873-5Beckwith–Wiedemann syndromeBWSFamilial BWSImprinting center 1IC1 microdeletionIC1 hypermethylation |
| spellingShingle | Qiliang Ding Zinandre Stander Brandon J. Elizalde Erica S. Stelmach Jaime C. Duncan Noemi Vidal-Folch Linda Hasadsri Kandelaria M. Rumilla Wei Shen Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome Clinical Epigenetics Beckwith–Wiedemann syndrome BWS Familial BWS Imprinting center 1 IC1 microdeletion IC1 hypermethylation |
| title | Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome |
| title_full | Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome |
| title_fullStr | Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome |
| title_full_unstemmed | Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome |
| title_short | Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome |
| title_sort | thirteen cases support the clinical significance of imprinting center 1 ic1 microdeletions in beckwith wiedemann syndrome |
| topic | Beckwith–Wiedemann syndrome BWS Familial BWS Imprinting center 1 IC1 microdeletion IC1 hypermethylation |
| url | https://doi.org/10.1186/s13148-025-01873-5 |
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